Sessions allow users to save snapshots of the Genome Browser and its current configuration, including displayed tracks, position, and custom track data. The Public Sessions tool allows users to easily share those sessions that they deem interesting with the rest of the world's researchers. You can add your own sessions to this list by checking the appropriate box on the Session Management page.

Description: All patient isolates in PRJNA613958, with exception of MinION sequenced, were individually aligned against the NC_045512.2 reference with SNPs called for each isolate using 'ngskit4b kalign'. A matrix of all individual isolate SNP site loci (rows) and isolate base calls at that loci (cols) created with 'ngskit4b snpmarkers' and this matrix then processed with 'ngskit4b snps2pgsnps' to output the pgSNPs tracks. Tracks show, for each SNP loci, the number of isolates containing the displayed allele base. Difference in tracks results from strictness of parameterisations (Allelic PValue, read coverage) used when calling SNPs. Author: biodiscoverySession Name: wuhCor1 PRJNA613958 allele unionGenome Assembly: wuhCor1Creation Date: 2020-04-26Views: 60

Description: Juniata Bioinformatics
Infantile Parkinsonism – dystonia is the second most popular neurodegenerative disorder. It is followed by Alzheimer. This disease is present in infancy and prevent those affected to live past their teenage year. This disease is fatal and has a second name known as Transporter deficiency Syndrome (DTDS). Those individuals that are affected may have many problem; limb dyskinesia, dystonia, and chorea, (OMIM,1). Currently we do not have an effective treatment to treat Infantile Parkinsonism-dystonia. This genetic mutation shows an increase between HVA and 5-HIAA in the cerebrospinal fluid. This leads to an increase in dopamine to serotonin metabolites, (OMIN,1). Author: mmendezSession Name: Juniata Bioinformatics; MM & NPGenome Assembly: hg19Creation Date: 2020-02-10Views: 63

Description: Juniata Bioinformatics BMKJ The original encoded protein functions as a transcriptional coactivator that increases c-Myc activity and inhibits transforming growth factor-beta (TGF-beta) and nuclear factor kappa-B (NF-kB) signaling. The encoded protein also regulates the stability of cyclin D1 mRNA and may play a role in cell proliferation and cancer progression. There is only one novel variant of this gene, and it is GLU366GLY. In the Puffenberger paper, they used a tool called PolyPhen-2, which can be found on Harvard's website, said the substitution was "probably damaging" with a score of 0.99. Some common characteristics expressed from the mutation are psychomotor delay, intractable seizures/epilepsy, bulbous nose, wide mouth and tongue, broad jaw, short hands, short tapered fingers, and broad thumbs.
The first track pictured below shows a graph that serves as a basis for the predicted alternative splicing transcripts shown in the SIB Genes track. The blocks represent exons and the lines indicate introns. Also, there is a vertex for each splice, start, and end.
The graph under the previous track shows the relationship between genetic variation and gene expression in multiple human tissues.
Author: bmiller913Session Name: SNIP1 BMKJGenome Assembly: hg19Creation Date: 2020-02-09Views: 92

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Description: Children with Usher’s syndrome show no problems during infancy but begin to lose their ability to hear and see during childhood. Patients also present with mild lower body abnormalities. Charles Bonnet syndrome may also occur after affected children contract an infectious illness. Charles Bonnet syndrome is characterized by “decreased visual acuity and vivid visual hallucinations.” Usher’s syndrome is caused by a missense mutation on the 454 position of the Histidyl-tRNA synthetase (HARS) gene in which a tyrosine is replaced with an serine. The normal function of HARS is to charge tRNA with a histidine amino acid. Evidence suggests that the mutation that causes Usher’s syndrome may change the recognition of tRNA codons and/or catalytic activity.
The Conservation track shows that this region is conserved across several species, and has amino acid variation in two of these species: Zebrafish (M instead of Y) and Lamprey (V instead of Y). Conservation across a number of species suggests that this region is essential to many vertebrates, and is perhaps why a mutation of this region is so detrimental.
The CRISPR targets track shows DNA sequences that are targetable by CRISPR RNA guides. This track is able to show an estimate of how efficient the cleavage would be at the site (Green is the highest) as well as how specific the 20-mer primer is to a specific site in the genome (Black is least specific to just that site). This could be helpful when exploring options for gene therapy or modifications to the gene.
The ClinVar Variants track shows the positions of variants in the ClinVar database. This track comes with two subtracks: one for long variants (100 bp or more, most of which are copy number variants) and one for short variants (less than 100 bp). The short variant track color codes variants according to their pathogenicity. Pathogenic variants are colored red, benign variants are colored green, and variants of uncertain significance are colored gray. The long variant track color code variants according to whether the variant is a copy number gain or loss. A user can click on a variant to find more information about the variant including a report that contains an interpretation of the variant and peer reviewed citations.
Author: behreka20Session Name: Juniata Bioinformatics KB, LL, CMGenome Assembly: hg19Creation Date: 2020-02-09Views: 70

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Description: The tracks in the Synonymous Constraint Public Hub represent regions of protein-coding sequences in which the rate of synonymous substitutions during mammalian evolution has been significantly lower or higher than in the rest of that gene. There are two tracks: Synonymous Constraint Elements (SCEs) have had lower than normal synonymous substitution rates while Synonymous Acceleration Elements (SAEs) have had higher than normal rates. Thanks to Maxim Wolf, Irwin Jungreis and others at MIT for the hub.Author: PublicSessionsSession Name: SynonymousConstraintHubGenome Assembly: hg19Creation Date: 2020-02-07Views: 302

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Description: Various mutations of the gene TUBGCP6 lead to alterations in the amino acid sequence of the subsequent protein, which leads to potential loss-of-function of the protein. This presents pathologically with ubiquitous marked microcephaly, a receding forehead, diminutive anterior fontanelle, and sutural ridging, in addition to other varied symptoms such as cognitive impairment, reduced cranial circumference, and epilepsy.Author: cadeemletSession Name: Juniata Bioinformatics CE & SAGenome Assembly: hg19Creation Date: 2020-02-07Views: 64

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Description: Juniata Bioinformatics SA and CE. Various mutations in gene TUBGCP6 result in microcephaly and chorioretinopathy. This gene codes for a protein that is part of the gamma tubulin complex, which is required for microtubule nucleation at the centrosome, and thus mitosis beginning with interphase. Mutations affecting this protein can lead to symptoms of a receding forehead, diminutive anterior fontanelle, sutural ridging, cognitive delay, visual impairment, diffuse pachygyria, and a hypoplastic cerebellar vermis.
SA track: ENCODE Proteogenomics- this track is used to show functional elements of the human genome by using mass spectrometry to determine if translation is occurring by measuring protein produced by transcripts via proteogenomic mapping. This track identifies one exon within the TUBGCP6 gene. It is near the end of the mapped gene and its name is LGAGQTPGELLNPLVLNSVLSK.
CE track: GTEx RNA-seq- Displayed also is track for GTEx Gene, which displays the relative gene expression through total mRNA counts of TUBGCP6 in 53 tissue sites distributed throughout the body. What can be derived primarily through this track is that the tissues which exhibit the greatest effects of TUBGCP6 gene mutations also exhibit the highest levels of genetic expression of the gene in healthy individuals, indicating a more prominent role in affected regions. Author: slca1991Session Name: Juniata Bioinformatics SA and CEGenome Assembly: hg19Creation Date: 2020-02-07Views: 103

Description: The disease of interest is Infantile Parkinsonism found on the SLC6A3 gene as the variant IVS9+1G>T. Infantile Parkinsonism is described as is an extremely rare inherited neurological syndrome that presents in early infancy with hypo-kinetic Parkinsonism and dystonia that can lead to fatality. Parkinsonism is a condition that causes movement abnormalities seen in Parkinson's disease such as tremors, slow movement, and impaired speech or muscle stiffness due to he loss of dopamine-containing neurons. Dystonia is a movement disorder in which a person's muscles contract uncontrollably. The SCL6A3 gene provides instruction for making proteins, specifically a dopamine transporter. This protein is found in neurons and is responsible for the transport of dopamine into the cells. Dopamine is a chemical messenger that signals for motivation, behavior, and control movement. The variant changes the first nucleotide of the ninth intron from a G to a T. This mutation would result in a change of the splicing pattern of the DNA.
The track that Nicci explored was the CRISPR Targets track which shows the DNA sequences targetable by CRISPR RNA guides using the enzyme Cas9 over the whole human genome. CRISPR technology is a simple yet powerful tool for editing genomes. It allows researchers to easily alter DNA sequences and modify gene function. The track shows all potential -NGG target sites across the genome. Gray or black regions indicate impossible or hard to target areas. The colors blue, red, yellow, and green indicate the predicted chance of cleavage from unable to calculate to high predicted cleavage respectively. Mel explored the Vega Genes track which shows gene annotations from the Vertebrate Genome Annotation (Vega) database. Annotations are divided into two sub tracks from the Vega Human Genome Annotation project. The Two sub tracks include Vega protein coding and noncoding gene annotations as well as Vega annotated pseudogenes and immunoglobulin segments. This track follows the display conventions for gene prediction tracks. Transcript type may be found by clicking on the transcript identifier which forms the outside link to the Vega link detail page.
School: Juniata CollegeAuthor: NMP94876Session Name: Homewrok 3 Nicole Piccioni and Mell ended Juanita College BioinformaticsGenome Assembly: hg19Creation Date: 2020-02-29Views: 74

Description: This was an example of a CyVerse hosted assembly hub at the PAG 2020 workshop. The data at CyVerse is hosted at this directory that you can click and see the files: https://data.cyverse.org/dav-anon/iplant/home/brianleesoe/AssemblyHub_Ex1/. In that directory you can click and read the text file named hub.txt and see how an assembly hub is a few stanzas that define the names of a genome and where to find binary-indexed raw data to display on the browser. The data is defined by the twoBitPath araTha1.2bit line in the genome stanza and in the bigDataUrl cytoBandIdeo.bigBed and bigDataUrl ensGene.araTha1.bb lines in the track stanzas. There is also an index file on the genes track searchTrix ensGene.araTha1.ix that allows to search the genes by both their names, such as abcc2 and their accessions, such as AT3G50470.1.Author: brianleeSession Name: CyVerse_Assembly_HubGenome Assembly: hub_1979095_araTha1Creation Date: 2020-01-13Views: 99

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Description: This session reflects a PAG 2020 Sunday Session, Genomics of Non-Classical Model Animals, and a speaker Bridgett vonHoldt from Princeton University. The title of Dr. vonHoldt's talk was Everyone Is Your Friend! the Molecular Architecture of Hypersocial Canines. Dr. vonHoldt analyzed wolf and dog populations and discovered a 5-Mb genomic region on chromosome 6 in dogs previously found to be under positive selection in domestic dog breeding. They gathered data on friendliness between a captive wolf and pet dog populations and then examined variants. The region affected by structural variants associated with the exuberant sociability of domestic dogs related to a gene WBSCR17 on chr7 in humans linked to Williams-Beuren syndrome (WBS), a multisystem congenital disorder characterized by hypersocial behavior. Humans with this mutation have a lack of stranger danger and are overly cheerful. This session shows the WBSCR17 gene in human.
Author: brianleeSession Name: Human_WBSCR17Genome Assembly: hg38Creation Date: 2020-01-13Views: 107

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Description: This session reflects a PAG 2020 Sunday Session, Genomics of Non-Classical Model Animals, and a speaker Claudio V. Mello from Oregon Health and Science University. Dr. Mello's talk was titled What Comparative Studies of Parrot Genomes Can Teach Us about Longevity, Large Brains and Cognition. Dr. Mello identified genomic features under selection in parrots and other long-lived birds that included telomerase activity (TERT), DNA damage repair, control of cell proliferation, cancer, immunity, and anti-oxidative mechanisms. His group also identified many brain-expressed, parrot-specific paralogs with known functions in neural development or vocal-learning brain circuits seen in humans (AUS2). This session shows similar alignment information in the conservation track around human AUTS2 as in one of Dr. Mello’s supplemental slides.
Author: brianleeSession Name: Human_AUTS2Genome Assembly: hg38Creation Date: 2020-01-13Views: 125

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Description: This session reflects a PAG 2020 Poster by Hao Meng et al. from Peking-Tsinghua Center for Life Sciences, Peking University. The title of the poster was Morphology and Genetics of Kinked Tails of Domestic Cats (Felis catus) in East and Southeast Asia. Hao Meng and colleagues investigated the morphology and genetics of kinked tails in cats. Mutations in coding sequences (CDS) of T and HES7 were identified correlated to the short tails in Manx and Japanese bobtail breeds as well as some feral cats in Asia, However, about one third of short-tailed cats in China do not carry either variant. The poster described a new 1.6 Mb region with non-synonymous mutations were seen, suggesting changes in regulatory regions, the poster concluded.
An example of viewing this region on the UCSC Browser with the regulatory Gene Interactions track turned on. In humans the interactions track seem to suggest this region has many long distant interactions spanning across it from distant enhancers.
Author: brianleeSession Name: Human_HES7Genome Assembly: hg38Creation Date: 2020-01-13Views: 104

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Description: This session reflects a PAG 2020 Saturday Session, Cattle/Sheep/Goat 1, and the speaker George E. Liu from the Animal Genomics and Improvement Laboratory, USDA-ARS. The session title was Comparative Epigenomics and Genotype-Phenotype Association Analyses Revealed Conserved Genetic Architecture underlying Complex Traits between Cattle and Human. Dr. Liu’s lab examined comparative genomics around the histone marks and found that they could transfer cell-type-specific information from the human data to infer similar issues about genes related to certain diseases. A specific example was PIK3CG, a gene high specifically expressed in mononuclear cells was significantly associated with both age-at-menopause in human and daugter-still-birth in cattle. This session shows PIK3CG in human.
Author: brianleeSession Name: Human_PIK3CGGenome Assembly: hg38Creation Date: 2020-01-13Views: 97

Description: In this specific session of 3 bases with scores missing, at the very end of chrM of mm10, you can see data is lacking from all the related sources (yellow highlight): http://genome.ucsc.edu/s/brianlee/mm10_chrM
This explains how there can be a discrepancy between the number of positions covered by the phastCons file and the length of a chromosome. It is likely caused by gaps in the multiple alignment process. Gaps often result from gaps in the reference assembly or variable regions that do not align well between species. Anywhere the multiple alignment is lacking data, phastCons cannot be used to calculated conservation scores.
Author: brianleeSession Name: mm10_chrMGenome Assembly: mm10Creation Date: 2019-11-22Views: 144

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Description: Juniata Bioinformatics KH JL
Lethal neonatal rigidity and multifocal seizure syndrome is characterized by underdeveloped brains and seizures that begin in-utero. Seizures continue after birth and result in death which occurs usually by the age of 4 months. The disease is caused by an insertion of an A in the BRAT1 gene. The normal BRAT1 gene function is to be a master controller of cell cycled checkpoint signaling pathways that are required for cellular responses to DNA damage.Author: herrkx18Session Name: Amish Lethal Neonatal rigidity and Seizure syndromeGenome Assembly: hg19Creation Date: 2020-02-10Views: 78

Description: This session highlights data from the DASHR v2.0 Hub, created by the Wang lab at the University of Pennsylvania. DASHR is a comprehensive database of expression and processing information to date on all major classes of human small non-coding RNA (sncRNA) genes and mature sncNA annotations, expression levels, sequence and RNA processing information across 185 human tissues, cell types, and cell lines.
The region being visualized shows mir-132. A sncRNA linked to post-transcriptional regulation of neuronal cells.
More info on DASHR V2.0: http://dashr2.lisanwanglab.org/Author: LouSession Name: DASHRV2Genome Assembly: hg38Creation Date: 2018-12-11Views: 507

Description: This sessionView is a collection of tracks centered around large genetic variants (CNVs). The session is organized with gene annotations at the top, followed by the DGV Struct Var track, which displays variants observed in healthy individuals. The rest of the tracks include different databases that visualize large variants linked to disease phenotypes. The region displayed is a 2Mbp region on chr4 with many pathological variants present.Author: viewSession Name: VariationCNVsGenome Assembly: hg19Creation Date: 2018-10-16Views: 322

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Description: This sessionView is a collection of tracks centered around genetic variation. The collection of tracks primarily displays small variants from multiple databases. The session is organized with tracks having fewer variants with more annotations near the top, and large tracks with fewer annotations near the bottom. The region displayed is the SOD1 gene which is well annotated and provides an exemplar for this track collection.Author: viewSession Name: VariationGenome Assembly: hg19Creation Date: 2018-10-10Views: 343

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Description: This sessionView is a collection of tracks centered around comparative genomics. It primarily consists of multiz alignments and conserved elements/conservation scores identified by phastCons. 18 organisms were chosen for comparison from 100 available vertebrates, sampling clades evenly. The region displayed is an ultra-conserved region in the PCBP2 gene where little divergence is seen throughout all mammals. A similar session is available, ConservationDiv, which looks at a highly divergent region of the genome.Author: viewSession Name: ConservationConsGenome Assembly: hg19Creation Date: 2018-10-10Views: 484

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Description: This sessionView is a collection of tracks centered around comparative genomics. It primarily consists of multiz alignments and conserved elements/conservation scores identified by phastCons. 18 organisms were chosen for comparison from 100 available vertebrates, sampling clades evenly. The region displayed is a human accelerated region (HAR). HARs are among the most divergent regions in the genome displaying high divergence even among primates. An alternate region of this session is also available, ConservationCons, which looks at a highly conserved region of the genome.Author: viewSession Name: ConservationDivGenome Assembly: hg19Creation Date: 2018-10-10Views: 492

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Description: This sessionView is a collection of tracks centered around clinical significance. The track composition is similar to the Clinical public session, however, the number of tracks has been reduced to increase clarity. Featured tracks include gene annotations, SNVs, CNVs, SVs, and our publications track built by mining sequences and SNPs in publications. The displayed region is focused around the HTT gene, responsible for Huntington's disease and Lopes-Maciel-Rodan syndrome. The large region, which also includes part of the adjacent GRK4 gene, showcases the more concise view of this track in contrast to the Clinical session. A similar session is also available which shows the bp resolution CAG repeat linked to Huntington's disease, ClinicalZoom.Author: viewSession Name: ClinicalLiteGenome Assembly: hg19Creation Date: 2018-10-10Views: 498

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Description: This sessionView is a collection of tracks centered around gene support. The region displayed includes the HOXA1 gene and its upstream neighbor HOTAIRM1. The view is organized with different gene annotation approaches at the top, followed by mRNA evidence, and TSS data at the bottom.Author: viewSession Name: GeneSupportGenome Assembly: hg19Creation Date: 2018-10-05Views: 484

Description: RNA-seq in cell lines were carried out as follows: after MGC803 cells were transfected with siRNA against circMRPS35 or corresponding control in triplicate, total RNA were extracted and cDNA libraries were constructed for rRNA-depleted sample using the NEBNext® Ultra™ Directional RNA Library Prep Kit for Illumina according to the manufacturer’s instructions, and were sequenced on Illumina HiSeq Xten. RPKM method was used to determine the gene expression. The raw data were analyzed according to the DESeq2 method. Pathway analysis was used to find out the significant pathway of the differential genes according to KEGG database. For gene ontology (GO) analysis, we downloaded the GO annotations from NCBI, UniProt and the Gene Ontology. Fisher’s exact test was applied to identify the significant GO categories and FDR was used to correct the p-values. Author: jieMMSession Name: hg38_FINALGenome Assembly: hg38Creation Date: 2019-11-05Views: 182

Description: This session shows how the multi-region tool allows you to swap in alternate sequences into the main sequence, when desired. For example, if you click the "mutli-region" button under the Browser image (or go to the top "View" menu and then select it), you can paste chr5_KI270794v1_alt in the "Show one alternate haplotype, placed on its chromosome, using ID:" box and then also click the " Highlight alternating regions in multi-region view" box and the result is this session.

This issue came up when a user was doing PCR and found two results, one on chr5 and one on chr5_KI270794v1_alt and wanted to understand the meaning of the chr5_..._alt PCR hit. On our gateway page for hg38 (http://genome.ucsc.edu/cgi-bin/hgGateway?db=hg38) you will find an Assembly Details section, which will explain how the Genome Reference Consortium (GRC) in building a reference assembly observed several human chromosomal regions exhibit sufficient variability to prevent adequate representation by a single sequence and to address this issue, the GRCh38/hg38 assembly provides alternate sequence for selected variant regions through the inclusion of alternate loci scaffolds (or alt loci). The assembly contains 261 alt loci, where this chr5_KI270794v1_alt is one of the regions that just happens to be right around the specific gene of interest. This GRC Assembly Terminology page is useful in learning the definition of alternate sequences: https://www.ncbi.nlm.nih.gov/grc/help/definitions/ The answer to the user was that in some ways one can interpret this additional chr5_KI270794v1_alt PCR result as a representation where the GRC determined an additional sequence provides an alternate representation of the same locus. And this session helps to visualize that alternate sequence in place around the rest of the chromosome.
Author: brianleeSession Name: hg38_ chr5_KI270794v1_altGenome Assembly: hg38Creation Date: 2018-08-10Views: 309

Description: This sessionView is a collection of tracks centered around epigenomics. The profiles displayed primarily belong to the H1 cell line, however different origin samples may be chosen in the track configurations. The display is organized with gene annotations and mRNA abundance first, followed by regulatory profiles in the form of chromatin states (ChromHMM). These data are followed by ChIP-seq tracks exploring various transcription factors and regulatory regions/promoter tracks looking at DNase/CpG/methylation. The final tracks are the GTEx combined eQTL, which identifies genetic variants likely affecting proximal gene expression, and the GTEx Gene Expression, which shows median gene expression levels in 51 tissues and 2 cell lines. The region visualized is a ~12,000bp window surrounding the BRCA1 gene transcription start site. BRCA1 is a tumor suppressor and housekeeping gene linked to increased susceptibility to breast cancer when certain epigenomic markers are present.Author: viewSession Name: EpigenomicsGenome Assembly: hg19Creation Date: 2018-10-10Views: 401

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Description: This sessionView is a collection of tracks centered around clinical significance. Featured tracks include gene annotations, SNVs, CNVs, SVs, and our publications track built by mining sequences and SNPs in publications. The displayed region is a 294bp window looking at the CAG repeat linked to Huntington’s disease in the HTT gene. Two similar sessions are also available: ClinicalLite which has a reduced number of tracks for increased clarity, and Clinical which is the most informative clinical view.Author: viewSession Name: ClinicalZoomGenome Assembly: hg19Creation Date: 2018-10-10Views: 3991

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Description: This sessionView is a collection of tracks centered around clinical significance. Featured tracks include gene annotations, SNVs, CNVs, SVs, a cancer mutation database and our publications track built by mining sequences and SNPs in publications. The displayed region is focused around the HTT gene, responsible for Huntington's disease and Lopes-Maciel-Rodan syndrome. Two similar sessions are also available: ClinicalZoom which shows the bp resolution CAG repeat linked to Huntington's disease, as well as ClinicalLite which has a reduced number of tracks for increased clarity.Author: viewSession Name: ClinicalGenome Assembly: hg19Creation Date: 2018-10-10Views: 542

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Description: This sessionView is a collection of tracks centered around assembly support. The region displayed includes a reported GRC incident on hg19 which was then patched. It also showcases a gap which can lead to inconsistent or missing data on existing tracks; as seen by the Mappability and 1000 Genomes Project Accessible Regions tracks.Author: viewSession Name: AssemblySupportGenome Assembly: hg19Creation Date: 2018-10-05Views: 335

Description: Our LOVD Variants track has variants from many LSDBs; our OMIM Alleles, GWAS Catalog, ClinVar Variants and other tracks in the Phenotypes & Literature group may provide clues to when a SNP is Clinical (LSDB,OMIM,TPA,Diagnostic)" per the Flagged SNPs track based on whether dbSNP's true-or-false "clinically-assoc" flag is set from NCBI's documentation.Author: brianleeSession Name: hg19_variantsGenome Assembly: hg19Creation Date: 2018-06-01Views: 336

Description: All patient isolates in PRJNA613958, with exception of MinION sequenced, were individually aligned against the NC_045512.2 reference with SNPs called for each isolate using 'ngskit4b kalign'. A matrix of all individual isolate SNP site loci (rows) and isolate base calls at that loci (cols) created with 'ngskit4b snpmarkers' and this matrix then processed with 'ngskit4b snps2pgsnps' to output the pgSNPs tracks. Tracks show, for each SNP loci, the number of isolates containing the displayed allele base. Tracks provided for age, sex and sample month.Author: biodiscoverySession Name: wuhCor1 PRJNA613958 allele componentsGenome Assembly: wuhCor1Creation Date: 2020-04-29Views: 67

Description: Juniata Bioinformatics KH JL
Lethal neonatal rigidity and multifocal seizure syndrome is characterized by underdeveloped brains and seizures that begin in-utero. Seizures continue after birth and result in death which occurs usually by the age of 4 months. The disease is caused by an insertion of an A in the BRAT1 gene. The normal BRAT1 gene function is to be a master controller of cell cycled checkpoint signaling pathways that are required for cellular responses to DNA damage.Author: herrkx18Session Name: Amish Lethal Neonatal rigidity and Seizure syndrome 2Genome Assembly: hg19Creation Date: 2020-02-27Views: 56

Description: The genes HBB and HBD are both expressed in red blood cells, but HBB is also expressed in many other tissues, whereas HBD is expressed in red cells almost exclusively. Author: videoDemo1Session Name: hg19_hemoglobinGenome Assembly: hg19Creation Date: 2018-03-13Views: 437

Description: The GeneHancer database links human regulatory elements (enhancers and promoters) as arcs to their inferred target genes. Over 1 million regulatory elements obtained from seven genome-wide databases by GeneHancer are visualizable on the human hg19 and hg38 assemblies as color-coded curves ending on their respective targets. Read more about GeneHancer data on the track description page and this article GeneHancer: genome-wide integration of enhancers and target genes in GeneCards.Author: PublicSessionsSession Name: GeneHancerGenome Assembly: hg38Creation Date: 2019-05-31Views: 359

Description: This assembly hub for the CG2 clonal zebrafish is part of a much larger collection of assembly hubs. The hub details can be found on the gateway page for this hub found here. The hub is Biosample: SAMN03964926 and has Assembly accession ID: GCA_001483285.1.

The hub is is part of this much larger assembly hub collection, with a launching page found here (note these will launch on our test development site as this hub is considered a prototype and hasn't passed quality control). Once connected to the above hub you have access to all of these hubs, the launching page only makes it more easy to directly link to the Track Browsing page. When connected one can also go to the Gateway page (earlier link) and see a Download files for this assembly hub: section with a wget command to access all the files for these assembly hubs. Author: brianleeSession Name: CG2zebrafishGenome Assembly: hub_89563_GCA_001483285.1_CG2v1.0Creation Date: 2018-07-06Views: 289

Description: This session illustrates the meaning of columns in the axt file definition here, http://genome.ucsc.edu/goldenPath/help/axt.html
You can see that indeed if you subtract to find the differences in the primary organism coordinates (panTro4: 78679-77637 = 1,042) it will be different than the values in the aligning organism coordinates (hg19: 88869-87772 = 1,097), but in the primary assembly sequence line you can see where there isn't a match in more than one place (most notable gct---------------------------------------------------ctt) as seen in this alignment of hg19 to panTro4. See the mailing list question here: link.Author: brianleeSession Name: hg19.panTro4Genome Assembly: hg19Creation Date: 2018-02-02Views: 378

Description: The GeneHancer track relates enhancer and promoters to their interactions with nearby genes. The interactions track in the pack setting allows for a pack view of the data with the direction and name of individual endpoints clearly displayed. A highlighted GH01J209814 enhancer is associated with the gene IRF6 (Interferon Regulatory Factor 6) located about 10kb upstream from the gene and harbors regulatory non-coding variants strongly associated to Van Der Woude Syndrome 1 (VWS1), a disease involving cleft lip and cleft palate.Author: viewSession Name: GeneHancerPackGenome Assembly: hg19Creation Date: 2019-03-29Views: 104

Description: With this session loaded navigate to the Variant Annotation Integrator (VAI) tool (under the top blue bar Tools menu). Then scroll down and click the "Get results" button to experience how the VAI tool can now output HGVS terms. This session is loaded with an artificial input of variants on the human hg38 assembly with NCBI RefSeq Genes track (curated NM_*, NR_*, and YP_* subset) filtered for coding exons and splice site roles and on DNase regulatory elements with output in HTML Variant Effect Predictor format where the "Extra" column will include HGVS notation. Please note that a semi-colon ";" will separate results in that field (HGVSG=NC_000010.11:g.27005592_27005594delAGA; HGVSCN=NM_014915.2:c.5129_5131delTCT; EXON=34/34).Author: brianleeSession Name: hg38.exampleVAIGenome Assembly: hg38Creation Date: 2017-09-25Views: 907

Description: We are pleased to add the UniBind Hub to our list of publicly available track hubs. UniBind is a comprehensive map of direct transcription factor - DNA interactions in the human genome. UniBind expands on the previous data and is now available on GRCh38/hg38. Below is a session highlighting UniBind transcription factor-DNA binding interactions in the SPR gene.
http://genome.ucsc.edu/s/dschmelt/UniBindSRF
More info on UniBind:
https://unibind.uio.no
We would like to thank the Mathelier Lab at the University of Oslo for creating this hub!Author: dschmeltSession Name: UniBindSRFGenome Assembly: hg38Creation Date: 2019-04-17Views: 743

Description: This session is a response to question for research on Myc binding sites on the IDH1 gene promoter, with a desire to analyze the conservation of Myc binding sites between human and mouse.
In the session Transcription Factor ChIP-seq (161 factors) from ENCODE track is displayed and three MYC binding spots represented. This clustered transcription factor binding track can be sorted to display only certain factors like MYC. Below the MYC binding spots (wgEncodeRegTfbsClusteredV3 track) the conservation data from 100 assembly alignments are displayed (cons100way track), with the specific data from mouse selected. Further below that the Chain/Net data (placentalChainNet track) specific for mouse are also displayed. To see this question on our Mailing List click this link: https://groups.google.com/a/soe.ucsc.edu/d/msg/genome/94u1jx2bk6c/py3OD90WAQAJAuthor: brianleeSession Name: hg19.mycBinding2Genome Assembly: hg19Creation Date: 2017-07-13Views: 447

Description: This sessionView is a collection of tracks centered around gene expression. The display is organized with gene annotations first, followed by mRNA and smRNA evidence. Following these data are GTEx tracks which display median gene expression and transcripts from 51 tissues and 2 cells lines. The final tracks in this collection provide additional expression support: TSS/Dnase/chromatin state. The region visualized is a ~10,200bp window covering two HOX genes which are regulators for embryonic development and continue to be expressed throughout postnatal life.Author: viewSession Name: ExpressionGenome Assembly: hg19Creation Date: 2018-10-08Views: 323

Description: This session uses a new format called type=longTabix, here is a mailing list describing this type: https://groups.google.com/a/soe.ucsc.edu/d/msg/genome/kE2pIZUvfnA/jfopk7pFAQAJ
This new type uses a custom track that points to a .gz file, and where that is located there is also a .gz.tbi file that provides the index. The tab-separated .gz file has contents like the following: chr19 44116910 44119168 chr21:47876840-47878656,2 31515 .
The .tbi file is built using the tabix software from: http://samtools.sourceforge.net/tabix.shtml Author: brianleeSession Name: hg19.other_regionsGenome Assembly: hg19Creation Date: 2017-05-25Views: 482

Description: We have recently released a file type called "longTabix" which supports inter & intra-chromosomal interactions by drawing an "arc" among paired regions in the UCSC Genome Browser. Note the first track at the top of the display, you can click on any of the "arcs" or interaction connections to see details such as ID and score.
Credit goes to Cath Tyner for the creation of this session.
Link to the original question:
https://groups.google.com/a/soe.ucsc.edu/d/msg/genome/kE2pIZUvfnA/jfopk7pFAQAJAuthor: PublicSessionsSession Name: Viewing inter- & intra-chromosomal interactionsGenome Assembly: hg19Creation Date: 2017-02-13Views: 490

Description: Since the reference genome assembly is a series of clone sequences from multiple individuals, and all individuals contain rare alleles, some of these rare alleles are included in reference assemblies. In this case, NM_001103170 (TGc), "c" mismatches the reference assemblies "A" because the reference sequence contains a substitution at this location. Please note that this example is on hg18, many (but not all) of these cases have been addressed in newer assemblies. AADACL3, in particular, does not have this substitution in GRCh38/hg38.
Credit goes to Christopher Villarreal for creation of this session.
Link to original question:
https://groups.google.com/a/soe.ucsc.edu/d/msg/genome/6TG1Pze9rUI/TLsKg7bNAwAJAuthor: PublicSessionsSession Name: hg18.AADACL3_mRNA_discrepancy_vs_referenceGenome Assembly: hg18Creation Date: 2016-12-09Views: 523

Description: This session highlights the differences in microRNA expression between endothelial cells and other primary cells types. The data in this session comes from the "Towards the human cellular microRNAome" public hub, created by Marc Halushka and Arun Patil at the Johns Hopkins Medical Institute.Author: chmaleeSession Name: hg38_microRNA_cell_expressionGenome Assembly: hg38Creation Date: 2017-09-11Views: 1190

Description: GTEx Allele Specific Expression hub from the Lappalainen Lab at the New York Genome Center. This session shows a region along chromosome 17 of high skin-specific allelic imbalance in a large number of Keratin genes. Author: chmaleeSession Name: hg19KeratinAseGenome Assembly: hg19Creation Date: 2016-08-30Views: 1530

Description: We sequenced the hermaphroditic freshwater snail, Biomphalaria glabrata (strain BB02), the host for the medically important trematode parasite, Schistosoma mansoni, using 1X coverage from plasmids and 0.1X BAC end sequencing on the ABI3730xl and 10X coverage sequenced on the Roche 454 Sequencer (including 2 paired end read runs) was initially assembled with Newbler. The Newbler assembly was screened for contamination then merged with a Soap assembly of Illumina reads followed by use of an in-house program for collapsing of redundant heterozygous contigs. Next, we applied our program, GapCloser, which closes gaps in the assembly by making iterative joins using Illumina reads. Finally we removed contigs less than 200 bases and incorporated reads into the assembly that had been assembled in a prior version of the Newbler assembly but were not assembled in this round. The resulting assembly, going by the name of assembly version 4.3, is 898.9Mb bases with an N50 contig length of 6.9kb and N50 scaffold length of 42kb. For creation of the linkage group AGP files, we identified all scaffolds that were uniquely placed on a single linkage group. Because of low marker density, only 145Mb was localized to specific linkage groups and scaffolds could not be ordered and oriented within linkage groups. Therefore, the scaffolds were simply placed in the order suggested by the linkage mapping on *_random for each linkage group.
Credits:
B. glabrata BB02 samples - Omar dos Santos Carvalho, Centro de Pesquisas Rene Rachou-Fiocruz (sample location: Barreiro, Brazil)
BAC library - Coen M. Adema et al. (2006)
Sequencing and Assembly - The Genome Institute, Washington University School of Medicine
Linkage map
- Jacob Tennessen and Michael Blouin, Oregon State University White Paper
- Matty Knight et al (2003) Others -
- Fred Lewis Biomedical Research Institute of the American Foundation of Biomedical Research
- Eric Loker University of New Mexico Biology
- Nithya Raghavan Biomedical Research Institute of the American Foundation of Biomedical ResearchAuthor: lijingSession Name: hub_107761_bioGla0Genome Assembly: hub_107761_bioGla0Creation Date: 2016-08-24Views: 742

Description: This session of gene prediction tracks for "heart genes" uses the interact and bigGenePred formats to create decorations and the image of a heart. Read more about the interact format and bigGenePred formats from links on the Data File Formats help page under the Help menu and FAQs: http://genome.ucsc.edu/FAQ/FAQformat.htmlAuthor: PublicSessionsSession Name: heartGenome Assembly: hg38Creation Date: 2019-02-11Views: 2358

Description: This session demonstrates the GTEx track on the human assembly hg19. The GTEx track shows data from the NIH Genotype-Tissue Expression project and displays expression data for each gene, based on GENCODE gene models, from 51 tissues collected from 570 individual. This session also demonstrates the gene-only mode of the multi-region feature, which removes intergenic regions from the display.Author: mspeirSession Name: hg19_gtexAnnouncementGenome Assembly: hg19Creation Date: 2016-06-17Views: 565

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Description: This session is demonstrating the exon-only mode of the multi-region feature. The exon-only mode uses the GENCODE v22 track to slice up the normal display and remove both intronic and intergenic regions from the display. Only those regions covered by exons, both coding and noncoding, are left in the display. For more on the multi-region display see the user guide: http://genome.ucsc.edu/goldenPath/help/multiRegionHelp.html.Author: mspeirSession Name: hg38_exonOnlyExampleGenome Assembly: hg38Creation Date: 2016-06-17Views: 545

Description: Session highlights a mouse-specific repeat on chromosome 12. You can see the gap in the 60-way vertebrate alignment surrounding the repeat, which is highlighted in light blue. The repeat is classified as a LINE and is part of the L1 family of repeats. Additionally, on the far right-hand side of the display, you can see the retrotransposed Bf3 gene. Author: mspeirSession Name: mm10_MouseSpecificRepeat_plus_RetroposedGeneGenome Assembly: mm10Creation Date: 2016-05-24Views: 506

Description: This mailing question allows one to see how you can color the current DNA with data from tracks such as SNP tracks. Load the session, then type "v d" or go to the View menu and then select DNA.
Once you are on the "Get DNA for" page do not click "get DNA" rather click the 'extended case/color options' button and get Extended DNA Case/Color Output with DNA colored per the SNP tracks (150 in this case) or choose other tracks. Note that the All SNPs are Italic and Blue and the Common SNPs are Bold and Red and when they are both the colors and style combine. Author: brianleeSession Name: hg19.MLQ_20306Genome Assembly: hg19Creation Date: 2017-10-11Views: 356

Description: This session shows the Integrative and Discriminative Epigenome Annotation System (IDEAS) Public Hub, which has data for inferred chromatin states in 127 cell types. A color key for each state is shown near a heatmap on the Track Description page, also found in the related journal figure 1. This session has some segmentation examples by IDEAS and ChromHMM in HSC and B-cell cell types (9 total) near genes CIITA and CLEC16A. Find more reference information on the Track Description page or at this journal article. The IDEAS algorithm is available on GitHub at https://github.com/yuzhang123/IDEAS.Author: brianleeSession Name: hg19.IDEAS.hubGenome Assembly: hg19Creation Date: 2017-10-05Views: 566

Description: This session was used to answer a mailing list question about mm9.retina data. You can see how the signal data was processed to create finalized peaks. Author: brianleeSession Name: mm9.retinaGenome Assembly: mm9Creation Date: 2017-11-14Views: 374

Description: This browsing started on hg38, and then the region was lifted to hg19, and then the TFBS track turned on to show how some histone activity is related to TFBS that aren't seen on hg38 because the track isn't available there. Author: brianleeSession Name: hg19_MTORGenome Assembly: hg19Creation Date: 2019-01-22Views: 227